Canonical Allele Identifier: CA388640640

Gene: PCCA

Linked Data

• MyVariant Identifiers: chr13:g.101179960A>C (hg19) ; chr13:g.100527706A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.100527706A>C , CM000675.2:g.100527706A>C	GRCh38
NC_000013.10:g.101179960A>C , CM000675.1:g.101179960A>C	GRCh37
NC_000013.9:g.99977961A>C	NCBI36
NG_008768.1:g.443624A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376285.6:c.2072A>C MANE Select	ENSP00000365462.1:p.Glu691Ala
ENST00000636366.1:c.1270A>C
ENST00000636475.1:c.1587A>C
ENST00000637657.1:c.1732A>C
ENST00000647303.1:c.*1556A>C	ENSP00000495663.1:n.*1556A>C
ENST00000376279.7:c.1931A>C	ENSP00000365456.3:p.Glu644Ala
ENST00000376285.5:c.2072A>C	ENSP00000365462.1:p.Glu691Ala
ENST00000376286.8:c.1994A>C	ENSP00000365463.4:p.Glu665Ala
ENST00000428969.1:c.221A>C	ENSP00000399413.1:p.Glu74Ala
ENST00000458283.5:c.288A>C
NM_000282.3:c.2072A>C	NP_000273.2:p.Glu691Ala
NM_001127692.2:c.1994A>C	NP_001121164.1:p.Glu665Ala
NM_001178004.1:c.1931A>C	NP_001171475.1:p.Glu644Ala
XR_931615.1:n.1929A>C
NM_001352605.1:c.2018A>C	NP_001339534.1:p.Glu673Ala
NM_001352606.1:c.1928A>C	NP_001339535.1:p.Glu643Ala
NM_001352607.1:c.1853A>C	NP_001339536.1:p.Glu618Ala
NM_001352608.1:c.1850A>C	NP_001339537.1:p.Glu617Ala
NM_001352610.1:c.1127A>C	NP_001339539.1:p.Glu376Ala
NM_001352611.1:c.1073A>C	NP_001339540.1:p.Glu358Ala
NM_001352612.1:c.983A>C	NP_001339541.1:p.Glu328Ala
NR_148027.1:n.2121A>C
NR_148028.1:n.2159A>C
NR_148029.1:n.2081A>C
NR_148030.1:n.2262A>C
NR_148031.1:n.2075A>C
XM_017020609.1:c.1973A>C	XP_016876098.1:p.Glu658Ala
XM_017020613.1:c.2010A>C	XP_016876102.1:p.Ter670Cys
XR_001749567.1:n.2252A>C
XR_001749568.1:n.2339A>C
XR_001749569.1:n.2198A>C
XR_001749574.1:n.2108A>C
XR_001749576.1:n.1809A>C
XR_001749577.1:n.1706A>C
NM_000282.4:c.2072A>C MANE Select	NP_000273.2:p.Glu691Ala
NM_001352605.2:c.2018A>C	NP_001339534.1:p.Glu673Ala
NM_001352606.2:c.1928A>C	NP_001339535.1:p.Glu643Ala
NM_001352607.2:c.1853A>C	NP_001339536.1:p.Glu618Ala
NM_001352608.2:c.1850A>C	NP_001339537.1:p.Glu617Ala
NM_001352610.2:c.1127A>C	NP_001339539.1:p.Glu376Ala
NM_001352611.2:c.1073A>C	NP_001339540.1:p.Glu358Ala
NM_001352612.2:c.983A>C	NP_001339541.1:p.Glu328Ala
NR_148027.2:n.2043A>C
NR_148028.2:n.2081A>C
NR_148029.2:n.2003A>C
NR_148030.2:n.2184A>C
NR_148031.2:n.1997A>C
NM_001127692.3:c.1994A>C	NP_001121164.1:p.Glu665Ala
NM_001178004.2:c.1931A>C	NP_001171475.1:p.Glu644Ala